[Choreo-acanthocytosis].
We report a case of choreo-acanthocytosis in a 33 year-old man with mild chorea of the limbs but no involuntary movements of the face, areflexia, epilepsy and personality changes. Acanthocytosis was 10-20% and creatine-phosphokinase levels were raised. Electrophysiological data were consistent with lower motor neurone dysfunction. Muscle biopsy revealed changes typical of neurogenic atrophy. Nerve biopsy showed a severe loss of large myelinated axons. Electron microscopic examination was in favour of primary axonal damage affecting mainly myelinated fibers and only slightly unmyelinated fibers.
Ferrer
X
X
Service de Neurologie, Hôpital du Haut-Levêque, Pessac.
Julien
J
J
Vital
C
C
Lagueny
A
A
Tison
F
F
D000050:Acanthocytes; D000328:Adult; D002819:Chorea / Q000097:blood* / Q000201:enzymology / Q000473:pathology; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D008297:Male; D009420:Nervous System / Q000473:pathology
D003402:Creatine Kinase
La chorée-acanthocytose.